Linked Data
gnomAD v4:
1-197039171-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039172_197039173del , CM000663.2:g.197039172_197039173del | GRCh38 |
| NC_000001.10:g.197008302_197008303del , CM000663.1:g.197008302_197008303del | GRCh37 |
| NC_000001.9:g.195274925_195274926del | NCBI36 |
| NG_012065.1:g.33095_33096del , LRG_550:g.33095_33096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*205_*206del MANE Select | ENSP00000356382.2:n.*205_*206del | |
| ENST00000649282.1:c.946_947del | ENSP00000497116.1:n.946_947del | |
| XM_011509283.2:c.*1126_*1127del | XP_011507585.1:n.*1126_*1127del | |
| XM_011509284.2:c.*1126_*1127del | XP_011507586.1:n.*1126_*1127del | |
| XM_011509286.2:c.*1126_*1127del | XP_011507588.1:n.*1126_*1127del | |
| NM_001994.3:c.*205_*206del MANE Select | NP_001985.2:n.*205_*206del |